A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

PPP1R21 acts as a co-factor for protein phosphatase 1 (PP1), an important serine/threonine phosphatase known to be essential for cell division, control of glycogen metabolism, protein synthesis, and muscle contractility. Bi-allelic pathogenic variants in PPP1R21 were linked to a neurodevelopmental d...

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Detalles Bibliográficos
Autores principales: Hentschel, Andreas, Meyer, Nancy, Kohlschmidt, Nicolai, Groß, Claudia, Sickmann, Albert, Schara-Schmidt, Ulrike, Förster, Fabian, Töpf, Ana, Christiansen, Jon, Horvath, Rita, Vorgerd, Matthias, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, Hanns, Preusse, Corinna, Hannappel, Luis, Schänzer, Anne, Grüneboom, Anika, Gangfuß, Andrea, Roos, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039818/
https://www.ncbi.nlm.nih.gov/pubmed/36692708
http://dx.doi.org/10.1007/s12035-023-03219-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039818/
https://www.ncbi.nlm.nih.gov/pubmed/36692708
http://dx.doi.org/10.1007/s12035-023-03219-9

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